Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families

BACKGROUND: Spondyloepi(meta)physeal dysplasias (SE[M]D) are a group of inherited skeletal disorders that mainly affect bone and cartilage, and next‐generation sequencing has aided the detection of genetic defects of such diseases. In this study, we aimed to identify causative variants in four Chine...

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Detalles Bibliográficos
Autores principales: Cao, Yixuan, Guan, Xin, Li, Shan, Wu, Nan, Chen, Xiumin, Yang, Tao, Yang, Bo, Zhao, Xiuli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034684/
https://www.ncbi.nlm.nih.gov/pubmed/35261200
http://dx.doi.org/10.1002/mgg3.1916

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034684/
https://www.ncbi.nlm.nih.gov/pubmed/35261200
http://dx.doi.org/10.1002/mgg3.1916

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